Canonical Allele Identifier: CA356429675

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15589595G>T , CM000666.2:g.15589595G>T	GRCh38
NC_000004.11:g.15591218G>T , CM000666.1:g.15591218G>T	GRCh37
NC_000004.10:g.15200316G>T	NCBI36
NG_013035.1:g.124730G>T , LRG_697:g.124730G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378615.1:c.4230G>T MANE Select	NP_001365544.1:p.Trp1410Cys
ENST00000424120.6:c.4230G>T MANE Select	ENSP00000403465.1:p.Trp1410Cys
NM_001080522.2:c.4230G>T , LRG_697t1:c.4230G>T	NP_001073991.2:p.Trp1410Cys
NM_001378617.1:c.4083G>T	NP_001365546.1:p.Trp1361Cys
ENST00000389652.11:c.4266G>T	ENSP00000374303.8:p.Trp1422Cys
ENST00000389652.9:c.3728G>T
ENST00000424120.5:c.4230G>T	ENSP00000403465.1:p.Trp1410Cys
ENST00000503292.5:c.4230G>T	ENSP00000421809.1:p.Trp1410Cys
ENST00000503292.6:c.4230G>T	ENSP00000421809.1:p.Trp1410Cys
ENST00000506643.4:c.2558G>T
ENST00000506643.5:c.4083G>T	ENSP00000422931.2:p.Trp1361Cys
ENST00000514039.6:c.459G>T	ENSP00000488534.2:p.Trp153Cys
ENST00000634028.1:c.4036G>T	ENSP00000488669.1:n.4036G>T
ENST00000634028.2:c.4083G>T	ENSP00000488669.2:p.Trp1361Cys
ENST00000650860.2:c.*1727G>T	ENSP00000498775.1:n.*1727G>T
ENST00000674945.1:c.3906G>T	ENSP00000502333.1:p.Trp1302Cys
ENST00000675768.1:n.1450G>T
ENST00000680586.1:n.4889G>T
XM_005248177.1:c.4230G>T	XP_005248234.1:p.Trp1410Cys
XM_011513869.1:c.4248G>T	XP_011512171.1:p.Trp1416Cys
XM_011513870.1:c.4248G>T	XP_011512172.1:p.Trp1416Cys
XM_011513871.1:c.4101G>T	XP_011512173.1:p.Trp1367Cys
XM_017008482.1:c.4083G>T	XP_016863971.1:p.Trp1361Cys